RGD:156072502 Rat Genome Database

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Variant: RGD:156072502 -  Homo sapiens

RGD ID: 156072502
ClinVar ID: CV2325333
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FABP9  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 82,370,916
GRCh38 8 81,458,681
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001080526.2:c.269G>C
NC_000008.11:g.81458681C>G
NC_000008.10:g.82370916C>G
NM_001080526.1:c.269G>C
More...
12/15/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FABP9
Accession:NM_001080526
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVEPFLGTWKLVSSENFEDYMKELGVNFAARNMAGLVKPTVTISVDGKMMTIRTESSFQDTKISFKLGEEFDETTADNRK
VKSTITLENASMIHVQKWLGKETTIKRKIVDEKMVVECKMNNIVSTRIYEKV*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004177716 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FABP9 CLINVAR
OMIM 620856 CLINVAR